SynthesisHuman molecular genetics2016
Protective coding variants in CFH and PELI3 and a variant near CTRB1 are associated with age-related macular degeneration†.
Synthesis in Human molecular genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
14 citing papers in PubMed, 20 citations in OpenAlex.
- Genetic Susceptibility in Sinusoidal Obstruction Syndrome/Veno-Occlusive Disease: A Case-Control Study.International journal of molecular sciences · 2025Article
- Fluorescence Lifetime Imaging Ophthalmoscopy, Vision, and Chorioretinal Asymmetries in Aging and Age-Related Macular Degeneration: ALSTAR2.Investigative ophthalmology & visual science · 2025Article
- Identifying Novel Genes and Variants in Immune and Coagulation Pathways Associated with Macular Degeneration.Ophthalmology science · 2023Article
- Risk and protection of different rare protein-coding variants of complement component C4A in age-related macular degeneration.Frontiers in genetics · 2023Article
- Proteotranscriptomic analyses reveal distinct interferon-beta signaling pathways and therapeutic targets in choroidal neovascularization.Frontiers in immunology · 2023Article
- Review
- Clinicopathologic Implications of Complement Genetic Variants in Kidney Transplantation.Frontiers in medicine · 2021Article
- Eye Diseases Direct Interest to Complement Pathway and Macrophages as Regulators of Inflammation in COVID-19.Asia-Pacific journal of ophthalmology (Philadelphia, Pa.) · 2020Article
- Rare and Common Genetic Variants, Smoking, and Body Mass Index: Progression and Earlier Age of Developing Advanced Age-Related Macular Degeneration.Investigative ophthalmology & visual science · 2020Article
- Genetic Susceptibility, Diet Quality, and Two-Step Progression in Drusen Size.Investigative ophthalmology & visual science · 2020Article
- Rare Genetic Variants in Jewish Patients Suffering from Age-Related Macular Degeneration.Genes · 2019Article
- Association Between Perifoveal Drusen Burden Determined by OCT and Genetic Risk in Early and Intermediate Age-Related Macular Degeneration.Investigative ophthalmology & visual science · 2019Article
- Validated Prediction Models for Macular Degeneration Progression and Predictors of Visual Acuity Loss Identify High-Risk Individuals.American journal of ophthalmology · 2019Article
- Macular Degeneration Epidemiology: Nature-Nurture, Lifestyle Factors, Genetic Risk, and Gene-Environment Interactions - The Weisenfeld Award Lecture.Investigative ophthalmology & visual science · 2017Article
Corrections and comments
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Authors and funding
9 authors at 7 institutions in 4 countries.
Funding
Abstract
Although numerous common age-related macular degeneration (AMD) alleles have been discovered using genome-wide association studies, substantial disease heritability remains unexplained. We sought to identify additional common and rare variants associated with advanced AMD. A total of 4,332 cases and 25,268 controls of European ancestry from three different populations were genotyped using the Illumina Infinium HumanExome BeadChip. We performed meta-analyses to identify associations with common variants, and single variant and gene-based burden tests to identify rare variants. Two protective, low-frequency, non-synonymous variants were significantly associated with a decrease in AMD risk: A307V in PELI3 (odds ratio [OR] = 0.14, P = 4.3 × 10-10) and N1050Y in CFH (OR = 0.76, P = 6.2 × 10-12). The new variants have a large effect size, similar to some rare mutations we reported previously in a targeted sequencing study, which remain significant in this analysis: CFH R1210C (OR = 18.82, P = 3.5 × 10-07), C3 K155Q (OR = 3.27, P = 1.5 × 10-10) and C9 P167S (OR = 2.04, P = 2.8 × 10-07). We also identified a strong protective signal for a common variant (rs8056814) near CTRB1 associated with a decrease in AMD risk (logistic regression: OR = 0.71, P = 1.8 × 10-07). Suggestive protective loci were identified in the COL4A3 and APOH genes. Our results support the involvement of common and low-frequency protective variants in this vision-threatening condition. This study expands the roles of the innate immune pathway as well as the extracellular matrix and high-density lipoprotein pathways in the aetiology of AMD.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.